Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. The objective of this retrospective cohort study was to critically analyze the onset and time course of symptoms, and the clinical diagnostic work-up in the Swiss NP-C cohort. ME...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Abela, Lucia, Plecko, Barbara, Palla, Antonella, Burda, Patricie, Nuoffer, Jean-Marc, Ballhausen, Diana, Rohrbach, Marianne
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4253629/
https://ncbi.nlm.nih.gov/pubmed/25425405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0176-7
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